MCID: BLD053
MIFTS: 53

Blood Platelet Disease

Categories: Blood diseases, Bone diseases, Immune diseases

Aliases & Classifications for Blood Platelet Disease

MalaCards integrated aliases for Blood Platelet Disease:

Name: Blood Platelet Disease 12 15 73
Blood Platelet Disorders 76 44 73
Platelet Disorder 12 76 55
Platelet Dysfunction 55 73
Thrombocytopathy 12 76
Qualitative Platelet Deficiency 73
Platelet Disorders 43

Classifications:



External Ids:

Disease Ontology 12 DOID:2218
MeSH 44 D001791
SNOMED-CT 68 22716005

Summaries for Blood Platelet Disease

MedlinePlus : 43 Platelets, also known as thrombocytes, are small pieces of blood cells. They form in your bone marrow, a sponge-like tissue in your bones. Platelets play a major role in blood clotting. Normally, when one of your blood vessels is injured, you start to bleed. Your platelets will clot (clump together) to plug the hole in the blood vessel and stop the bleeding. You can have different problems with your platelets: If your blood has a low number of platelets, it is called thrombocytopenia. This can put you at risk for mild to serious bleeding. The bleeding could be external or internal. There can be various causes. If the problem is mild, you may not need treatment. For more serious cases, you may need medicines or blood or platelet transfusions. If your blood has too many platelets, you may have a higher risk of blood clots. When the cause is not known, this is called thrombocythemia. It is rare. You may not need treatment if there are no signs or symptoms. In other cases, people who have it may need treatment with medicines or procedures. If another disease or condition is causing the high platelet count, it is thrombocytosis. The treatment and outlook for thrombocytosis depends on what is causing it. Another possible problem is that your platelets do not work as they should. For example, in von Willebrand Disease, your platelets cannot stick together or cannot attach to blood vessel walls. This can cause excessive bleeding. There are different types of in von Willebrand Disease; treatment depends on which type you have. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Blood Platelet Disease, also known as blood platelet disorders, is related to bernard-soulier syndrome and gray platelet syndrome, and has symptoms including angina pectoris, edema and chest pain. An important gene associated with Blood Platelet Disease is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Affiliated tissues include bone, bone marrow and lung, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 76 Platelets, also called thrombocytes (from Greek θρ�?μβο�?, "clot" and κύ�?ο�?, "cell"), are a component... more...

Related Diseases for Blood Platelet Disease

Diseases related to Blood Platelet Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 215)
# Related Disease Score Top Affiliating Genes
1 bernard-soulier syndrome 31.9 F2 F2R F8 GP1BA GP1BB GP5
2 gray platelet syndrome 31.9 GP5 GP9 SELP VWF
3 factor v deficiency 31.8 F10 F2 F3 F8 VWF
4 myh-9 related disease 31.8 GP1BA MYH9
5 thrombocytosis 31.3 F2 F3 MPL SELP SERPINC1 THPO
6 purpura 31.1 ADAMTS13 F2 F3 GP1BB ITGA2B ITGB3
7 thrombocytopenia 30.7 ADAMTS13 F3 GP1BA GP1BB GP9 ITGA2B
8 marantic endocarditis 30.2 F2 F3 SERPINC1
9 hemophilia 30.1 F2 F3 F8 VWF
10 von willebrand's disease 29.8 ADAMTS13 F2 F3 F8 GP1BA SELP
11 acquired von willebrand syndrome 29.8 F8 GP1BA VWF
12 thrombasthenia 29.8 F2 F3 GP1BA GP9 ITGA2B ITGB3
13 megakaryocytic leukemia 29.8 ITGA2B PF4 RUNX1 THPO VWF
14 factor viii deficiency 29.7 F2 F8 VWF
15 hemophilia a 29.7 F10 F3 F8 VWF
16 liver cirrhosis 29.5 F2 F3 SERPINC1 THPO
17 thrombocytopenic purpura, autoimmune 29.4 GP1BA ITGA2B ITGB3 MPL SELP THPO
18 thrombocytopenia due to platelet alloimmunization 29.3 GP9 ITGA2B ITGB3 MPL MYH9 SELP
19 glanzmann thrombasthenia 29.1 F2 F2R F3 F8 GP1BA GP9
20 thrombosis 28.8 ADAMTS13 F10 F2 F3 F8 GP1BA
21 quebec platelet disorder 12.6
22 platelet disorder, familial, with associated myeloid malignancy 12.5
23 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality 12.4
24 platelet disorder, undefined 12.0
25 thrombocytopenia with beta-thalassemia, x-linked 11.9
26 cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder 11.3
27 arthrogryposis, renal dysfunction, and cholestasis 1 11.1
28 schlegelberger grote syndrome 11.1
29 bleeding disorder, platelet-type, 17 11.0
30 arthrogryposis, renal dysfunction, and cholestasis 2 11.0
31 bleeding disorder, platelet-type, 18 11.0
32 bleeding disorder, platelet-type, 19 11.0
33 bleeding disorder, platelet-type, 20 11.0
34 bleeding disorder, platelet-type, 21 11.0
35 hermansky-pudlak syndrome 11.0
36 stormorken syndrome 10.9
37 fainting 10.3 F8 VWF
38 cerebral arteritis 10.3 F8 VWF
39 acquired hemophilia a 10.3 F3 F8
40 prothrombin deficiency 10.3 F2 F3
41 grange syndrome 10.2 F3 SELP VWF
42 thrombocytopenia 3 10.2 MPL THPO
43 bombay phenotype 10.2 ADAMTS13 VWF
44 hemarthrosis 10.2 F10 F8 VWF
45 brachydactyly, type d 10.2 F2 F8 VWF
46 thrombocythemia 1 10.2 MPL THPO
47 aspirin allergy 10.2 ITGA2B SERPINC1
48 cerebral falx meningioma 10.2 F2 F3
49 leukocyte adhesion deficiency, type iii 10.2 F2R ITGA2B SELP
50 acquired hemophilia 10.2 F10 F3 F8

Graphical network of the top 20 diseases related to Blood Platelet Disease:



Diseases related to Blood Platelet Disease

Symptoms & Phenotypes for Blood Platelet Disease

UMLS symptoms related to Blood Platelet Disease:


angina pectoris, edema, chest pain

GenomeRNAi Phenotypes related to Blood Platelet Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.05 ITGB3
2 Decreased viability GR00106-A-0 10.05 MPL
3 Decreased viability GR00221-A-2 10.05 ITGB3
4 Decreased viability GR00221-A-4 10.05 ITGB3
5 Decreased viability GR00240-S-1 10.05 MPL
6 Decreased viability GR00402-S-2 10.05 ADAMTS13 F10 F2 F2R F3 F8
7 no effect GR00402-S-1 9.62 ADAMTS13 F10 F2 F2R F3 F8

MGI Mouse Phenotypes related to Blood Platelet Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.21 ADAMTS13 F2 F2R F3 F8 GP1BA
2 homeostasis/metabolism MP:0005376 10.13 ADAMTS13 F10 F2 F2R F3 F8
3 cardiovascular system MP:0005385 10.11 F10 F2 F2R F3 ITGA2B ITGB3
4 embryo MP:0005380 9.97 F2 F2R F3 ITGA2B ITGB3 MPL
5 immune system MP:0005387 9.8 ADAMTS13 F2 F2R F3 F8 ITGA2B
6 mortality/aging MP:0010768 9.44 ADAMTS13 F10 F2 F2R F3 F8

Drugs & Therapeutics for Blood Platelet Disease

Search Clinical Trials , NIH Clinical Center for Blood Platelet Disease

Cochrane evidence based reviews: blood platelet disorders

Genetic Tests for Blood Platelet Disease

Anatomical Context for Blood Platelet Disease

MalaCards organs/tissues related to Blood Platelet Disease:

41
Bone, Bone Marrow, Lung, Heart, Myeloid, T Cells, Brain

Publications for Blood Platelet Disease

Articles related to Blood Platelet Disease:

(show top 50) (show all 58)
# Title Authors Year
1
Thrombopoietin levels in Quebec platelet disorder-Implications for the mechanism of thrombocytopenia. ( 29388746 )
2018
2
Downregulation of TREM-like transcript (TLT)-1 and collagen receptor α2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia. ( 30545930 )
2018
3
Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia. ( 29666006 )
2018
4
Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples. ( 28299211 )
2017
5
The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes. ( 28301587 )
2017
6
Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation. ( 28181366 )
2017
7
Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre-leukaemic clone resulting in T2-ALL and AML-M0. ( 27997762 )
2017
8
Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function. ( 28267383 )
2017
9
Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation. ( 28659335 )
2017
10
Genetic basis of myeloid transformation in familial platelet disorder/acute myeloid leukemia patients with haploinsufficient RUNX1 allele. ( 26849013 )
2016
11
Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia. ( 26316320 )
2016
12
Targeted gene correction of RUNX1 in induced pluripotent stem cells derived from familial platelet disorder with propensity to myeloid malignancy restores normal megakaryopoiesis. ( 26021490 )
2015
13
Mechanisms underlying platelet function defect in a pedigree with familial platelet disorder with a predisposition to acute myelogenous leukemia: potential role for candidate RUNX1 targets. ( 24606315 )
2014
14
Congenital Platelet Disorder and Type I von Willebrand Disease Presenting as Prolonged Bleeding After Cleft Lip and Palate Repair. ( 24237226 )
2013
15
Development of hairy cell leukemia in familial platelet disorder with predisposition to acute myeloid leukemia. ( 23971860 )
2013
16
RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins. ( 23848403 )
2013
17
It is not always immune thrombocytopenia: a case of MYH9-related platelet disorder caused by a novel mutation. ( 23489225 )
2013
18
CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML). ( 22138511 )
2012
19
Simultaneous measurement of adenosine triphosphate release and aggregation potentiates human platelet aggregation responses for some subjects, including persons with Quebec platelet disorder. ( 22234747 )
2012
20
Quebec platelet disorder. ( 21495923 )
2011
21
Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. ( 22102275 )
2011
22
Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia. ( 21725049 )
2011
23
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. ( 20007542 )
2010
24
Quebec platelet disorder. ( 20688024 )
2010
25
Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder. ( 20846103 )
2010
26
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. ( 19946261 )
2010
27
A novel RUNX1 mutation in a kindred with familial platelet disorder with propensity to acute myeloid leukaemia: male predominance of affected individuals. ( 20722699 )
2010
28
T cell acute lymphoblastic leukemia arising from familial platelet disorder. ( 20549580 )
2010
29
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. ( 18988861 )
2009
30
Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation. ( 19029443 )
2009
31
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. ( 19357396 )
2009
32
Evaluation of urokinase plasminogen activator in urine from individuals with Quebec platelet disorder. ( 18600101 )
2008
33
Quebec platelet disorder: features, pathogenesis and treatment. ( 18277131 )
2008
34
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. ( 18723428 )
2008
35
A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies. ( 18166807 )
2008
36
Bernard-Soulier syndrome: an inherited platelet disorder. ( 18081445 )
2007
37
Proposed management of pregnancy and labour in an inherited platelet disorder, Glanzmann's thrombasthenia. ( 17654200 )
2007
38
Use of recombinant activated factor VII to control bleeding in a young child with qualitative platelet disorder: a case report. ( 16651876 )
2006
39
Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis. ( 16689763 )
2006
40
Case report: Glanzmann thrombasthenia. Dental patient management for a rare platelet disorder. ( 16320915 )
2005
41
Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. ( 15741216 )
2005
42
The White platelet syndrome: a new autosomal dominant platelet disorder. ( 15203719 )
2004
43
Bleeding risks associated with inheritance of the Quebec platelet disorder. ( 15026313 )
2004
44
Anti-GPVI-associated ITP: an acquired platelet disorder caused by autoantibody-mediated clearance of the GPVI/FcRgamma-chain complex from the human platelet surface. ( 15150079 )
2004
45
Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies. ( 15138996 )
2004
46
Intracellular activation of the fibrinolytic cascade in the Quebec Platelet Disorder. ( 12888877 )
2003
47
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. ( 11830488 )
2002
48
Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator. ( 11435291 )
2001
49
Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder. ( 11754414 )
2001
50
Giant platelet disorder in a patient with type 2B von Willebrand's disease. ( 9423819 )
1998

Variations for Blood Platelet Disease

Copy number variations for Blood Platelet Disease from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 45936 10 75328946 75329067 Duplication PLAU Platelet disorder

Expression for Blood Platelet Disease

Search GEO for disease gene expression data for Blood Platelet Disease.

Pathways for Blood Platelet Disease

Pathways related to Blood Platelet Disease according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 F10 F2 F2R F3 F8 GP1BA
2
Show member pathways
12.68 F10 F2 F3 F8 SERPINC1
3 12.5 F2 F2R ITGA2B ITGB3 MYH9
4
Show member pathways
12.2 GP1BA GP1BB GP5 GP9 ITGA2B ITGB3
5 12.14 F10 F2 F2R F3 F8 SERPINC1
6
Show member pathways
12.14 F10 F2 F2R F3 F8 GP1BA
7
Show member pathways
12.1 F2 ITGB3 PF4 SELP
8
Show member pathways
12.1 F2 F2R ITGA2B ITGB3 MYH9 PF4
9 12.04 GP1BA GP5 ITGA2B ITGB3 MPL THPO
10 12.01 F2R GP1BA GP1BB GP5 GP9 ITGA2B
11 11.96 GP1BA GP1BB GP5 GP9 ITGA2B ITGB3
12 11.69 F3 ITGB3 VWF
13
Show member pathways
11.65 F2 GP1BA GP1BB GP5 GP9 ITGA2B
14 11.49 GP9 ITGA2B ITGB3 RUNX1
15 10.93 F2 F2R GP1BB GP5 GP9 ITGA2B
16 10.92 GP1BA GP1BB GP5 GP9 VWF
17 10.77 GP1BA GP1BB GP5 GP9 VWF
18 10.75 F10 F2

GO Terms for Blood Platelet Disease

Cellular components related to Blood Platelet Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.85 ADAMTS13 F10 F2 F3 F8 GP1BA
2 collagen-containing extracellular matrix GO:0062023 9.78 F3 PF4 SERPINC1 VWF
3 endoplasmic reticulum lumen GO:0005788 9.72 ADAMTS13 F10 F2 F8 SERPINC1
4 platelet alpha granule lumen GO:0031093 9.63 F8 PF4 VWF
5 cell surface GO:0009986 9.5 ADAMTS13 F2R F3 GP1BA ITGA2B ITGB3
6 plasma membrane GO:0005886 9.5 F10 F2 F2R F3 F8 GP1BA
7 platelet alpha granule membrane GO:0031092 9.43 ITGA2B ITGB3 SELP
8 intrinsic component of external side of plasma membrane GO:0031233 9.4 F10 F3
9 extracellular region GO:0005576 10.07 ADAMTS13 F10 F2 F2R F3 F8
10 integral component of plasma membrane GO:0005887 10.03 F2R GP1BA GP1BB GP5 GP9 ITGB3

Biological processes related to Blood Platelet Disease according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 hemostasis GO:0007599 9.93 ADAMTS13 F10 F2 F2R F3 F8
2 platelet degranulation GO:0002576 9.91 F8 ITGA2B ITGB3 PF4 SELP VWF
3 cell surface receptor signaling pathway GO:0007166 9.88 F2 GP1BA GP1BB MPL
4 integrin-mediated signaling pathway GO:0007229 9.78 ADAMTS13 ITGA2B ITGB3 MYH9
5 cell-matrix adhesion GO:0007160 9.76 ADAMTS13 ITGA2B ITGB3
6 regulation of megakaryocyte differentiation GO:0045652 9.76 GP1BA ITGA2B PF4 RUNX1
7 response to wounding GO:0009611 9.72 F2 F2R VWF
8 platelet aggregation GO:0070527 9.72 GP1BA ITGA2B ITGB3 MPL MYH9
9 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.71 F2 F2R SELP
10 platelet activation GO:0030168 9.7 ADAMTS13 F2 F2R F8 GP1BA GP1BB
11 regulation of blood coagulation GO:0030193 9.67 F2 F2R GP1BA SERPINC1
12 cell-substrate adhesion GO:0031589 9.59 ITGB3 VWF
13 positive regulation of blood coagulation GO:0030194 9.57 F2 F2R
14 positive regulation of leukocyte migration GO:0002687 9.56 ITGA2B SELP
15 thrombin-activated receptor signaling pathway GO:0070493 9.52 F2R GP1BA
16 blood coagulation, extrinsic pathway GO:0007598 9.51 F10 F3
17 thrombopoietin-mediated signaling pathway GO:0038163 9.49 MPL THPO
18 blood coagulation, intrinsic pathway GO:0007597 9.17 F2 F8 GP1BA GP1BB GP5 GP9
19 blood coagulation GO:0007596 10.07 ADAMTS13 F10 F2 F2R F3 F8
20 cell adhesion GO:0007155 10.06 GP1BA GP1BB GP5 GP9 ITGA2B ITGB3

Molecular functions related to Blood Platelet Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.62 F2 PF4 SELP SERPINC1
2 protein binding GO:0005515 9.6 ADAMTS13 F10 F2 F2R F3 F8
3 integrin binding GO:0005178 9.46 ADAMTS13 ITGB3 MYH9 VWF
4 thrombin-activated receptor activity GO:0015057 9.37 F2R GP1BA
5 fibrinogen binding GO:0070051 9.26 ITGA2B ITGB3
6 protease binding GO:0002020 9.26 F3 ITGB3 SERPINC1 VWF

Sources for Blood Platelet Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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